ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.13243A>C (p.Lys4415Gln)

gnomAD frequency: 0.00011  dbSNP: rs372325290
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000458237 SCV000551746 benign Primary ciliary dyskinesia 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV000458237 SCV002691442 uncertain significance Primary ciliary dyskinesia 2021-08-22 criteria provided, single submitter clinical testing The p.K4415Q variant (also known as c.13243A>C), located in coding exon 81 of the DNAH11 gene, results from an A to C substitution at nucleotide position 13243. The lysine at codon 4415 is replaced by glutamine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002475883 SCV002788191 uncertain significance Primary ciliary dyskinesia 7 2022-05-12 criteria provided, single submitter clinical testing

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